2009 Vienna - European Society of Human Genetics

Genetic counseling Genetics education, Genetic services, and Public policy
P01.40
the role of Genetic counseling in Premarital screening program
in saudi Arabia.
A. Al Suliaman, A. Sulaiman, M. Al Mishari, A. Al Sawadi, T. Owaidah;
Department of Genetics, Research Centre, King Faisal Hospital and Research
Centre, Riyadh, Saudi Arabia.
Haemoglobinopathies are the most inherited disorders worldwide
including Saudi Arabia which can be preventable with application of
screening programmers. Ministry of Health in Saudi Arabia had initiated
premarital screening program in all country regions. The aim of
this study was to explore the impact of the PMS and genetic counseling
on couples at risk for thalassaemia and sickle cell anima in an
area of the country with high hemoglobinopathy prevalence. A total
of 129 candidates at risk were included, 98% of them proceeded with
marriage. Culture pressure was the main reason in more than 48%. Although
most of the candidates did not receive genetic counseling yet,
the concept of genetic counseling was liked by most of them and the
program helped in early detection of the disease in their offspring.
P01.41
towards implementation of non-invasive prenatal diagnosis in
the UK National Health service
H. Burton, C. Wright;
PHG Foundation, Cambridge, United Kingdom.
Emerging technologies that capitalize on the presence of cell-free fetal
nucleic acids in the maternal bloodstream have the potential to transform
prenatal diagnosis and care by allowing non-invasive testing from
as early as 7 weeks. This represents a major advance, since diagnosis
currently requires a later, invasive procedure (amniocentesis or chorionic
villus sampling) with an associated miscarriage risk of around 1%.
Many women opt against prenatal testing for this reason, and hundreds
of healthy fetuses are lost following testing each year in the UK
alone. Technological applications already in active development are
the determination of fetal sex or the diagnosis of specific diseases in
the fetus of women at high risk of inherited disease; the determination
of fetal Rhesus blood-group status in Rhesus-negative women at high
risk of complications of pregnancy with a Rhesus-positive fetus; and
the diagnosis of aneuploidies such as Down Syndrome in the fetus.
The approach may permit diagnosis of a wider range of genetic diseases
in the future, subject to certain limitations, and ultimately could
also allow improved monitoring for complications of pregnancy such as
pre-eclampsia. The PHG Foundation has led an expert working group
of key UK stakeholders, including National Health Service (NHS) researchers,
clinicians, managers and patient representatives, in an examination
of current evidence and associated ethical, legal and social
issues in this area. Findings and strategic recommendations for the
effective and responsible implementation of this new technique into
health services in the UK will be presented.
P01.42
Public trust in media and science outreach on genomic studies:
a comparative study between the public and scientists
Z. Yamagata 1 , K. Muto 2 , A. Nagai 1 , A. Tamakoshi 3 , I. Ishiyama 4 , T. Maeda 5 , T.
Shirai 6 , K. Kato 6 ;
1 University of Yamanashi, Yamanashi, Japan, 2 The University of Tokyo, Tokyo,
Japan, 3 Aichi Medical University, Nagakute, Japan, 4 Teikyo Gakuen college,
Yamanashi, Japan, 5 The Institute of Statistical Mathematics, Tokyo, Japan,
6 Kyoto University, Kyoto, Japan.
Objectives: We’ve been conducting questionnaire surveys since 2005
to explore attitude change on genomic studies of the general public in
Japan. To clarify their attitudinal change from science outreach and
media interaction, we compare the two dataset from the general public
(2005 and 2008) and the dataset from Japanese scientists (2007).
Methods: Self-reporting questionnaires were sent regarding molecular
biology and human genetics/ genomics to the public (2005 and 2008)
and scientists (2007) in Japan. They were asked about their value and
risk cognition towards genome sciences, science outreach and media
interaction. We compared these results with the dataset from 2,171
citizens in 2005 (RR=54.3%), the dataset from 1,613 citizens in 2008
(RR-53.8%), and the dataset from scientists in 2007 (RR=35.1%).
Results: Regarding media interaction, received media on genomic
studies (multiple choices) in 2005 are “TV/Radio” (56.7%), followed by
“Newspapers” (46.3%) and “None” (22.8%). This trend hasn’t changed
in the dataset 2008. “Internet (3%)” and “Lecture series (1.1%) ” are
less requested media from the public. However, scientists responded
that they wanted to provide their research results via “Lecture series
(44.3%)”, “Newspapers (43.4%), “Internet (43.2%)”. “Information on
the Internet” is less trusted media in the public (11.5%) rather than
scientists’ forecast (33.0%). “Information from non-profit organizations”
are least trusted (7-8%) from both the public and scientists.
Discussions: Citizen journalism plays important roles for science communication
in Europe or South Korea, but not in Japan. We discuss
this results with our coming final survey.
P01.43
Effective strategies to generate public interest and dialogue in
genetics
K. Mathieson1,2 , P. Finegold1,2 , L. E. Holmes1,2 , M. J. Leech1,2 , D. Donnai1,2 , H.
R. Middleton-Price1,2 ;
1 2 Nowgen, Manchester, United Kingdom, The University of Manchester, United
Kingdom.
Public engagement is central to Nowgen’s work, as we believe that the
public need to be involved in shaping the future of genetic medicine.
We aim to empower citizens to make informed decisions about new
genetic technologies and health services. Nowgen is highly regarded
in its work related to education and dialogue and is becoming increasingly
involved in influencing policy at local and national level.
Nowgen has developed a comprehensive public engagement programme
that incorporates a broad range of approaches, including: debates,
exhibitions, working with artists, filming with teenagers, population
surveys and patient engagement. Our most successful strategy
has been to combine the display of visually engaging materials in the
community, with events involving leading academics. This approach
has stimulated public interest, generated significant media coverage
and provided opportunities for the public to find out more from experts
and discuss their views on scientific issues.
Two recent projects led by Nowgen have exemplified this approach.
‘Faces of Manchester’ involved the production of artwork about the
human face, alongside events exploring human identity and genetics.
‘Our Kid’ led to the development of a multimedia sculpture displaying
over thirty short films, alongside events highlighting biomedical
research.
An independent evaluator has reported on the impact on these projects,
finding that overall the audience response was very positive. The
main strengths of the projects were to work with numerous community
partners and use innovative, creative approaches to generate public
interest.
P01.44
Belgian strategies and actions for rare diseases
E. Swinnen, J. Cassiman;
Catholic University of Leuven, Centre of Human Genetics, Leuven, Belgium.
All rare diseases (prevalence of less than 1/2000) combined affect
around 8 % of the population and are a public health priority of the
European Union since 1999. A community action program (1295/99/
EC) of the European Commission asked all member states to adopt
a “national plan” on rare diseases by 2011. Belgium, internationally
respected for its medical infrastructure, services and research, can
also improve its suboptimal health care framework to address rare
diseases.
The Belgian taskforce on rare diseases and orphan drugs, supported
by the King Baudouin Foundation since 2006, is composed of a multidisciplinary
team of stakeholders. Representatives of a.o. patient
organisations, public health services and institutes, research centres
and industry have successfully campaigned for a comprehensive Belgian
national plan, in line with the decision of the European Union.
A strategic approach to improve the situation regarding diagnosis
and treatment as well as the stimulation of rare disease research in
Belgium will require many aspects to be considered. Already in place
are e.g. reference centres for certain rare diseases, a framework for
the approval and follow-up of orphan drug reimbursement and the Orphanet
Belgium database. The latter is an important resource to build
up for both patients and physicians.
The existing situation with regard to rare diseases in Belgium together
with future plans as well as the progress of the Orphanet Belgium database
will be presented.